Rare Disease Podcasts

ONCE UPON A GENE - EPISODE 199 Navigating as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network Mary McDirmid is a rare mom and Chief Inclusion Officer at Special Abilities Network. She has a passion for advocating for families like ours— families with children who have disabilities and rare diseases. She's here to talk us through the uncomfortable topic of financial and future planning for our rare families.  EPISODE HIGHLIGHTS How do parents approach planning for their children's future when things feel so uncertain? If you don't have the capacity to think about it, the first thing to do is to figure out what you can do to create space and capacity. Triage anything that's causing a lot of stress so you can move from caregiver mode to parent mode.  What's the importance of planning when you have a child with disabilities or rare disease? The importance is that if a child is on any type of state or federal benefit, we want to ensure they keep those benefits. When they turn 18, they're legally an adult and they can only have a certain amount of assets in their name. There's only a couple places we can put money to help them save and not have funds count against their asset limits. It's important to also be able to supplement financial care when you're no longer around. The importance is keeping your child benefit-eligible and to ensure your child is cared for.  What is your advice for parents who don't have the financial resources to save for their child's future? Apply for state benefits and leverage those resources to find funds. Think about other resources such as family members who can contribute. Examine how your family is spending money  and reflect on your personal spending habits to see if there's somewhere to save.   How can families advocate for change around policy and providing better care for our kids? If you're up for the fight, you have the time, and you have the capacity, think about what you want to achieve, be clear in your ask and be prepared to follow up. If you're considering taking something on, ask yourself if the project benefits from your special skill or expertise, if it serves the community you represent, and what / who you want to be held accountable to.  LINKS & RESOURCES MENTIONED Dante Labs https://us.dantelabs.com/ Special Abilities Network https://specialabilitiesnetwork.com/ TSC Alliance https://www.tscalliance.org/ State Disability Resource Guides https://truenorthdisabilityplanning.com/idd-roadmaps TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email ad[email protected] for more information!

Music Credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

Sydney & Brett Stelmaszek are heavily involved in the SRF community. Sydney is on the BOD, is a patient advocate, and coordinates our connection with Children’s Hospital of Philadelphia (CHOP). Brett is the driving force behind Cannonball for the Cure (CFTC), an annual fundraiser where SYNGAP1 parents drive cross country live-streaming the entire journey to raise awareness of SYNGAP1. This episode touches on their involvement with SRF as well as raising their son Emmitt, diagnosed with SYNGAP1 while living in South Africa. Their story of excessive seizures, aggression, hope, and love while caring for Emmitt and his two brothers is at times heart-breaking, but always heartwarming. Emmitt’s Warrior Story Eating with Emmitt - Blog Post Flying & Seizing from Africa to Florida - Emmitt's Story Sydney’s SRF Bio Follow Sydney & Brett: Instagram - @UFD_Tech Twitter - @SydneyStel & @UFDTech Facebook - Sydney YouTube - @UFDTech YouTube - Our Syngap Journey More links: Cannonball for the Cure Natural History Study at CHOP SPECIAL WEBINAR: $25M Gift to ENDD for SYNGAP1 and STXBP1 MDBR - Blog Post by Sydney Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: ⁠⁠⁠SRF Bio⁠⁠⁠ ⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠Facebook⁠⁠⁠⁠⁠ ⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠ Donate - ⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠⁠Registration⁠⁠⁠⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠ Episode 018 SYNGAP1 Stories, September 19, 2023 #SYNGAP1StoriesEmmitt #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp18 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Agression #Behavior #Cannonball #CFTC #UFD

Congrats to… - Allen Burke on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne   - Katrien on the ILAE #SYNGAP10 #S10e115    Webinar coming up:   Behaviour, Cognition and Sensory Processing in People with SYNGAP1   Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg   Sept 28 @ 9am PT/ 5pm GMT     Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s    Events to mention in SYNGAP10  - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike  - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!  - Scramble 10/7 Julie Miles https://syngap.fund/scramble   - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR  - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3   - Conference 11/30 & 12/1 + Sea World or Disney 12/2   Conference - Sign up by Halloween - We need head counts.  - Registration link: https://Syngap.Fund/Orlando    - Hotels: https://Syngap.Fund/2023hotel   - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/  Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!  - Volunteer! Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 116 of #Syngap10 - September 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)   Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson    Dr. Eschermann's Slides  https://www.patre.info/2023/09/04/presentation-at-iec-2023/ EURAS Project Press Release https://euras-project.eu/   Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando    - Hotels ASAP: https://Syngap.Fund/2023hotel    - Merch https://www.bonfire.com/srf-syngap1-conference-2023/  Volunteer with SRF!  - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts:  - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 115 of #Syngap10 - September 17, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat  

ONCE UPON A GENE - EPISODE 198 Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody Yssa Dean DeWoody is an incredible advocate and mom, sharing her journey through the intricate world of rare disease advocacy. She unveils the concept of transitioning between the Valerie side, where medical realities are confronted, and the Marie side, where the personal essence of her daughter shines.  EPISODE HIGHLIGHTS Can you share about your connection to the rare disease world? Our journey in the rare disease world started about 18 years ago with the birth of our third daughter, Valerie Marie. At three months old, she started having seizures and she was quickly diagnosed with RING14 Chromosome. We had the opportunity to attend an international family conference and it set us on a path to what it was like to be part of the rare disease community. I was inspired by the research and the idea that I could contribute to the community.  Can you tell us about Valerie Marie and why you're so intentional about differentiating between Valerie and Marie separately? My daughter's full name is Valerie Marie. My family refers to my daughter as Marie. Doctors always referred to her as Valerie. In time, it personified different aspects of my daughter where Marie was my daughter and her personality, her likes and dislikes. Valerie took on the more clinical presentation of her symptoms. If someone called my daughter Valerie, I knew they knew her in a medical sense and I had to create value around her by informing them who she was as a person.  What is your advice for families who want to share their stories effectively with a balance of objectivity and emotion? Whether it's at an IEP meeting at your child's school, a fundraising talk, or a speech at a large conference, it's best to start in the emotional realm with a hook that draws people in. Start with a personal story that invites the audience into your world in a personal way. Transition into a more scripted conversation guided by organized thoughts, clear ideas and a clear ask. It helps to have a clear outline in advance and know what you want out of it.  Can you share why you donated Valerie's brain to research and what the potential impact is on the rare disease community? At a research workshop, several experts emphasized the importance of brain donation in the event of a tragedy. There are so many critical questions with RING Chromosomes that might be answered from Valerie's brain donation. As a leader of the foundation with a heart for research, we chose to honor her life and continue her legacy in a way that could impact the community and inform research strategies.  LINKS & RESOURCES MENTIONED Dante Labs https://us.dantelabs.com/ RING14 USA https://ring14usa.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email ad[email protected] for more information!

Show Notes Victoria Arteaga is the Director of Fondo de Investigación SYNGAP & SYNGAP1 Mom to Amelia. She works endlessly to help the SYNGAP1 community in Latin America & across the globe, attending and presenting at multiple conferences annually. Vicky discusses Amelia’s progress, the joy she brings to the family, a new service dog, SRF’s latest podcast Café SYNGAP1 in Spanish, and the upcoming Second SYNGAP1 Scientific Conference, also in Spanish. Amelia’s Warrior Story⁠ & Instagram Post Vicky’s Bio⁠ Follow Vicky: Instagram - @vickyart78 Instagram Fondo - @syngapamericalatina Twitter - @VickyAArteaga More links: Gomez Family Video (Spanish w/ English subtitles) Brain & Life Interview - Spanish & English Café SYNGAP1 Segundo Congreso Científico Syngap1 en Español Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: ⁠⁠⁠SRF Bio⁠⁠⁠ ⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠Facebook⁠⁠⁠⁠⁠ ⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠⁠⁠https://syngapresearchfund.org⁠⁠⁠ Donate - ⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠⁠Registration⁠⁠⁠⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠ Episode 017 SYNGAP1 Stories, September 12, 2023 #SYNGAP1StoriesAmelia #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp017 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #ServiceDog

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83    Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818  - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687  - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525   CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk   ILAE Dublin was a great success -  - Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1   Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison   Conference - Sign up by Halloween - We need head counts.  - Registration link: https://Syngap.Fund/Orlando    - Hotels ASAP: https://Syngap.Fund/2023hotel   - Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Presentations  - Pharma - To follow https://syngap.fund/23    - UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda - Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/   - It matters, this data is bringing data to companies & making SYNGAP1 more attractive.  SHARE YOUR DATA.  - If you have issues, email Virginie and Mequel.    CANNONBALL 3 is coming!  October 4-6.  Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012    Share your time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611   This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 114 of #Syngap10 - September 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

ONCE UPON A GENE - EPISODE 197 Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy Ryan Sheedy is a dadvocate and the Co-Founder of My Mejo. He shares his journey of courage and determination to provide a service for the rare disease community through My Mejo and of being a rare dad.  EPISODE HIGHLIGHTS Can you tell us about your journey as a rare disease dad? My wife and I found out unexpectedly that we were having twins and that has been the theme of our journey-- you can think and prepare for what will happen and then throw it out the window because you're not in control. Reynolds and Campbell are five and a half years old. We weren't aware of complications with the twins, my wife had a scheduled c-section and we were excited to meet our babies. When they were born, it wasn't the joyous moment we imagined experiencing because both babies immediately experienced complications. That began our journey of a lot of unanswered questions, research, praying, hoping and tests.  What was the motivation for starting the My Mejo platform? During the time in the NICU and trying to keep all the information organized and detailing it for sharing, I drafted the idea to solve the problem of remembering everything and connecting the dots. I created a one pager of all Reynolds' key information and I'd provide it to all new providers and therapists. Reynolds was the inspiration for the platform, but I'm inspired daily by the people I get to meet because of the platform. We launched in June 2022 and today we have 1,400 users using the platform across the country.  How does the My Mejo platform work? My Mejo allows you to collect and consolidate all the information you may need into one place and allows caregivers to provide all the information relating to a child to healthcare professionals or other caretakers. We have a section called Getting to Know Me where parents can note personal details that humanize medical encounters. We work on simplicity everyday- on keeping the platform super simple and very useful. Instead of information being scattered across different places, My Mejo allows you to organize information in a format that is easy on the eye in a version that can be downloaded into a .pdf file, journal, playbook or through text or email with controllable access rights. I should also mention that the platform is completely free for families to use. LINKS & RESOURCES MENTIONED Mejo https://www.mymejo.com/ Global Genes 2023 RARE Advocacy Summit https://globalgenes.org/event/rare-advocacy-summit/ Costello Syndrome Family Network  https://costellosyndromeusa.org/ Dante Labs https://us.dantelabs.com/ International Rett Syndrome Foundation https://www.rettsyndrome.org/ My Rett Ally https://myrettally.mymejo.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email ad[email protected] for more information!

Intro music credited to: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music License: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

Super Heroine: Vicky Arteaga Fondo Syngap is tireless: - 2 Congreso en Español on September 23, 2023 https://www.syngapresearchfund.org/professionals/2023-en-espanol Spanish Podcast #CafeSyngap1e01  - YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg - Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw  - Spotify https://spotify.link/MJZZVMoKGCb  - Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1  #FondoSYNGAP   SRF is at ILAE - Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6 - Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment    Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani #SyngapStories #KETO #MAD - Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20 - Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet   Where have I been all week? - Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016  Soiree was AMAZING- Tweet https://twitter.com/curesyngap1/status/1696595956467183904- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc Super Heroine: Sydney Stelmazek - CHOP Update - 16 seen so far - 27 signed up - QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20    CANNONBALL 3 is coming!  October 4-6.     Super Heroine: Dr. Danielle Andrade   Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20   Proposals came in today, we need to raise money!Finally, we have at least 6 grant proposals received!  Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate  Share you time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611   CONFERENCE  Registration link: https://Syngap.Fund/Orlando   Hotels ASAP: https://Syngap.Fund/2023hotel  Shirts https://www.bonfire.com/srf-syngap1-conference-2023/    Volunteer with SRF! [email protected]    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:  https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 113 of #Syngap10 - September 2, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Show Notes Going back to school is difficult for most kids and their families, but for those living with SYNGAP1 and other rare diseases, it is especially hard! Mike Graglia, SRF Co-Founder & Managing Director and Dad to Syngapian Tony, joins Ashley again to talk about a crisis his family experienced on Tony's first day at a new school. It's easy to talk about the joy we experience with our special kids, but it can be gut-wrenching to discuss (and hear about) the hard days. That makes it so important to share these stories - to make sure our community and those around us can prepare for these possibilities to the best of our abilities. Please, if you have a story to share, email us at [email protected]. Thank you for listening! Tony’s Warrior Story Mike Graglia’s Bio Mike & Ashley’s Story SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠Episode 002⁠⁠⁠⁠⁠⁠ - Mike Graglia More links: Jackie Kancir’s Bio Webinar - Severe Behaviors & Advocacy (with Jackie Kancir) Blog Post - Stella Stays In School: Getting Educational Needs Met Blog Post - A Message To The Newly Diagnosed SynGAP-1 Parent Webinar - Your teenager was just diagnosed with SYNGAP1, processing through a new lens Syngap Soirée Ashley’s Soirée Video Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: ⁠⁠SRF Bio⁠⁠ ⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠ ⁠Facebook⁠⁠⁠⁠ ⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠What is SYNGAP1?⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠⁠https://syngapresearchfund.org⁠⁠ Donate - ⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠ ⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠ ⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠ ⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠⁠Registration⁠⁠⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠ Episode 016 SYNGAP1 Stories, August 30, 2023 #SYNGAP1StoriesTony #SynGAP #SYNGAP1 #SYNGAP1Stories #SYNGAP1Stories16 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #School #FirstDayOfSchool #NewSchool

Show Notes Samar Katnani, SRF Volunteer and Mom to 3-year-old Syngapian Reema, talks honestly about medications, sharing your story, self-help, anxiety associated with caring for Reema, fake crying, & much more. As with all SYNGAP1 Stories, this one gets very personal, and will benefit all of us, especially others caring for someone with a rare disease. Thank you for listening! Reema’s Warrior Story More links: ⁠⁠My Reema ⁠⁠Epilepsy Awareness Day is Every Day for Us Now⁠ Augmentative and Alternative Communication (AAC) device Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: ⁠SRF Bio⁠ LinkedIn⁠⁠⁠⁠⁠⁠⁠ Facebook⁠⁠⁠ Instagram⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠Episode 001⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠ What is SYNGAP1?⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠https://syngapresearchfund.org⁠ Donate - ⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠ SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠ Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠ How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠ ⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - ⁠⁠Registration⁠⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠ Episode 015 SYNGAP1 Stories, August 22, 2023 #SYNGAP1StoriesReema #MyReema #Syngap #SYNGAP1 #SYNGAP1Stories #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #Grandparents #SelfCare

Episodio #01 Bienvenidos a nuestro nuevo podcast, Café SynGAP1! En nuestro primer episodio, nos acompaña Valeria Torcetta, una invitada especial quien nos habla sobre Charo, su hija con Syngap1, y primera paciente diagnosticada en America Latina y Argentina. Nuestra anfitriona Merlina habla con Valeria sobre lo que ha sido el Syngap1 en la vida de Charo como se han enfrentado a los desafíos, su compromiso y labor incansable por dar a conocer esta patología y promover el diagnostico en Argentina. Historia de Charo Bio de ⁠⁠⁠⁠⁠Merlina Información sobre SRF & SYNGAP1:⁠⁠⁠ ⁠Que es SYNGAP1?⁠ ⁠⁠⁠ ⁠ Syngap Research Fund⁠ Donaciones: ⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠ ⁠SYNGAP1 & Epilepsia⁠⁠⁠⁠ ⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠⁠⁠ ⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠⁠⁠ ⁠⁠⁠Planificación Financiera⁠⁠⁠ Futura para las Personas con Discapacidades⁠ Conéctate con SRF (@curesyngap1): Facebook⁠⁠⁠⁠ ⁠⁠⁠⁠Twitter⁠⁠⁠⁠ ⁠⁠⁠⁠Instagram⁠⁠⁠⁠ ⁠LinkedIn⁠⁠⁠⁠ ⁠⁠⁠⁠TikTok⁠⁠⁠⁠ ⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal con Mike Conferencia SYNGAP1 2023, organizado por SRF - ⁠⁠⁠Reservaciones de Hotel⁠⁠⁠ Comentarios: [email protected] Episode 01 Café SYNGAP1, Agosto 21, 2023 #CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Charo #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo

Congratulations to Dr. Knowles, read our press release. https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy  Check out the CSC Clinic at Stanford https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1  Don’t miss #S10e111 to learn about Dr. Helbig https://www.youtube.com/watch?v=i6EZUrqsn2g  In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf  Congratulations to Dr. Kadam for the SRF supported Case Study Publication: https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full  Tweet: https://twitter.com/cureSYNGAP1/status/1692227117126439099   Register for the conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando    - Hotels ASAP: https://Syngap.Fund/2023hotel    - Merch https://www.bonfire.com/srf-syngap1-conference-2023/  Volunteer with SRF!  - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts:  - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 112 of #Syngap10 - August 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

*Note, we aware part of the video froze; that’s life!    RESEARCH! - Dr. Helbig gave a killer presentation today… at Stanford.  It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS.  We need them all.  Sign up for Ciitizen!  https://www.ciitizen.com/SYNGAP1/ - SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf - Grants due on 9/1, already seeing good stuff. https://www.syngapresearchfund.org/professionals/grants/how-to-apply   VOLUNTEER SITE IS UP - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund   WEBINARS ARE A VALUABLE RESOURCE - https://www.syngapresearchfund.org/families/resources/all-webinars/webinars - Yesterday, Dr. Underbakk, Previously with Dr. Courtney   NPR ARTICLE INCLUDING JACKIE KANCIR - https://wpln.org/post/episodes/the-cost-of-care-for-disabilities-and-chronic-illness   SYNGAP STORIESAshley Frye is killing it.  Suzanne Jones just did an episode.  The CHOP team listens, so do clinicians.  Call Ashley and share your story.   COMPANY UPDATES - Stoke had great news - https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-financial-results-2 - Praxis also having good results - https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-9 - Have not heard from RegEl or Ionis.   EVENTS - Getting ready for the Soiree - August 26th. - Cannonball set for October 4-6 - SRF SYNGAP1 CONFERENCE      - Register, book etc. https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund     - Watch #s10e109 https://youtu.be/to8SAwdzCmg   BIOMARKERS NEED BIOSAMPLES AND EEGS - Combined Brain collections are great Dr. TJB met our very own Pavel this weekend!  Plasma, plasma, plasma. - UCLA Study is moving forward for EEG collection.  Contact Declan via study page.   Upcoming times and places to do biosamples, thanks you Corey we are at 18 Syngapians and 21 Siblings.  KEEP GOING - GLUT1 Deficiency, August 26th, 9am-5pm (Embassy Suites, 13700 Conference Center Drive South, Noblesville, IN 46060) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069, 513-644-2207) - KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611) - NARS1 Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374) - Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202) - TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - FAM177A1, Oct 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040) - ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819) —--- CONFERENCE  Registration link: https://Syngap.Fund/Orlando   Hotels ASAP: https://Syngap.Fund/2023hotel  Shirts https://www.bonfire.com/srf-syngap1-conference-2023/    Volunteer with SRF! [email protected]    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:  https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 111 of #Syngap10 - August 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Show Notes: Suzanne Jones, SRF BOD chair & SYNGAP1 Mom, chats with Ashley about the upcoming Syngap Soirée fundraiser in Atlanta, caregivers, eating out (or not!), Jansen’s behavioral issues as well as her recent speech improvements, and advice to parents to modify their expectations when receiving a rare disease diagnosis. Connect with Suzanne SRF BIO   Facebook   Instagram   LinkedIn Jansen’s Warrior Story Jansen’s Journey More links:   Syngap Soirée, Sparks of Hope - Atlanta, GA, August 26, 2023   Soirée - Instagram   Soirée - LinkedIn   Fundraising   Article on Jansen in Variantyx   TV Interview of Jones Family by 11 Alive, Atlanta Follow ⁠⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠⁠: SRF Bio ⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠ ⁠⁠⁠Facebook⁠⁠ ⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠ ⁠⁠Nathan’s Warrior Story⁠⁠ SYNGAP1 Stories ⁠⁠⁠Episode 001⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠ ⁠⁠What is SYNGAP1?⁠⁠ ⁠⁠⁠⁠⁠ ⁠⁠ Syngap Research Fund⁠⁠ - https://syngapresearchfund.org Donate - ⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠ ⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠ ⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠ ⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠ ⁠⁠⁠ ⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠ Connect with SRF (@curesyngap1):   ⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠   ⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠   ⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠   ⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠   ⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠   ⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - ⁠Registration⁠ Wednesday SRF Family Zoom Meeting: ⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠ Episode 014 SYNGAP1 Stories, August 8, 2023 #SYNGAP1StoriesJansen #Syngap #SYNGAP1 #SYNGAP1Stories #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Fundraising #Horses #HorseRiding #Caregivers

Adam's Camp: Get on the mailing list! https://adamscamp.org/ Tony’s Slides! https://docs.google.com/presentation/d/1RVJekxVN6Bemx78Boy7FRbUrtHKAVE0bBzRBlIpyEeA/edit?usp=sharing   Compression Clothing https://calmcare.com/   Come to the conference https://www.youtube.com/watch?v=to8SAwdzCmg — CONFERENCE  Registration link: https://Syngap.Fund/Orlando   Hotels ASAP: https://Syngap.Fund/2023hotel  Shirts https://www.bonfire.com/srf-syngap1-conference-2023/    Volunteer with SRF! [email protected]    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:  https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 110 of #Syngap10 - July 31, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

ONCE UPON A GENE - EPISODE 196 A Rare Collection - School’s Out for the Summer There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Karen Pratt When school lets out for the summer, it's stressful and I have to prepare in advance because I depend on school care for my sons so I can work. I recently received a call that my son Jack would be getting a nurse. Unfortunately, we have been through several nurses who weren't well suited for my son's care. It's been frustrating to not have the help that's desperately needed. My oldest son Luke doesn't qualify for nursing, despite not being able to walk or talk, depending solely on adult care. It's been another stressful summer without sufficient help, balancing all the demands of caring for them at home, working and doing the other things I need to do.  Julie Anderson While other families are opening their pools and planning getaways, my husband and I are planning for our daughter's summer and navigating the effects of CTNNB1. Summer has become synonymous with stress and anxiety for our family. We've noticed that our daughter's meltdowns increase in frequency during school breaks, particularly over summer break. She thrives on structure and the stimulation school provides. We can't provide the same structure, stimulation and attention she receives from aids and teachers at school. We've learned to plan ahead, feel our feelings, adapt and move forward. We found ways to make the summer enjoyable and we've even planned time for ourselves. Jennifer Spina  When I think back to my carefree childhood summers, I recall swimming, running through the woods and exploring with friends. Summer break looks different now. The world is generally inaccessible for a child with physical and cognitive disabilities. The uncertainty and planning for a parent is intimidating and isolating. It's hard to be different and stared at. It can be painful to be surrounded by the able-bodied comparison of your child. For a long time, I avoided situations and places that would trigger me. During a neighbor's backyard gathering, I realized that I didn't want to be the reason Nora couldn't experience true inclusion and relationships with our neighborhood children.  CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Show Notes: Ashley and SYNGAP1 Mom Stefanie Decker chat about 5-year-old Saydee. Diagnosed in 2020, Saydee loves water, is a local “celebrity”, and has “the best smile’! Listen to their SYNGAP1 journey and how they handle the ups and downs of living with a rare disease. Stefanie’s SRF BIO Saydee’s Warrior Story⁠ More links:   2022 Caregiver Connect - blog written by Stefanie   CHOP Natural History Study Follow ⁠⁠⁠⁠⁠Ashley Frye⁠⁠⁠⁠⁠: ⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠ ⁠⁠Facebook⁠⁠ ⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠ ⁠Nathan’s Warrior Story⁠ SYNGAP1 Stories ⁠⁠Episode 001⁠⁠ - Ashley Frye SYNGAP1 Stories ⁠⁠Episode 005⁠⁠ - Panda Panda’s News Story:  ⁠⁠Nathan’s Dog⁠⁠ SRF & SYNGAP1 Info:⁠⁠⁠ ⁠What is SYNGAP1?⁠ ⁠⁠⁠ ⁠ Syngap Research Fund⁠ Donate: ⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠ ⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠ ⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠ ⁠How to Get Free Genetic Testing⁠⁠⁠⁠ ⁠⁠⁠ ⁠Special Needs Trusts⁠⁠⁠⁠ Connect with SRF (@curesyngap1):   ⁠⁠⁠⁠Facebook⁠⁠⁠⁠   ⁠⁠⁠⁠Twitter⁠⁠⁠⁠   ⁠⁠⁠⁠Instagram⁠⁠⁠⁠   ⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠   ⁠⁠⁠⁠TikTok⁠⁠⁠⁠   ⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠ w/ Mike SYNGAP1 Conference 2023, hosted by SRF - Registration SRF Newsletter Special ⁠5th Birthday Issue⁠ 6/27/23 Wednesday SRF Family Zoom Meeting: ⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: [email protected] Music: ⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠ Episode 013 SYNGAP1 Stories, July 25, 2023 #SYNGAP1StoriesSaydee #Syngap #SYNGAP1 #SYNGAP1Stories #epilepsy #epilepsyawareness #autism #autismawareness #intellectualdisability #id #anxiety #raredisease #rarediseaseresearch #SynGAPResearchFund #careaboutrare #advocacy #patientadvocacy #neurology #genetictesting #therapy #family #water #sisters #siblings #bestsmile

Guest Hosts: Ashley Frye & Lauren Perry   THE BASICS Who: Everyone! Families (including extended), caregivers, scientists, industry reps.  What: SRF’s 2nd Annual SYNGAP1 Conference.  - Registration link: Syngap.Fund/2023ConfReg Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center.  - Room block:  https://Syngap.Fund/2023hotel When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that.  Why: Once in a year opportunity to be in the same room with multiple Syngap families from not only around the US but around the world!  T-SHIRTS: https://www.bonfire.com/srf-syngap1-conference-2023/  — Volunteer with SRF! [email protected]  This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:  https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 109 of #Syngap10 - July 20, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

ONCE UPON A GENE - EPISODE 195 Anecdotes From a Rare Disease Dad of an Adult Son with NR4A2 with Joe Henry Joe Henry is a rad dadvocate of an adult son with NR4A2 and he's been around the block a time or two, here to share reflections and stories from his journey, spreading hope to all the parents who feel hopelessness. EPISODE HIGHLIGHTS Can you share about your son and diagnosis journey? My wife and I had some fertility issues and finally had our son Franklin. When he wasn't meeting any of his milestones, we started down the diagnostic path, seeing a neurologist, getting an MRI and limited genetic testing to the extent that it was available 27 years ago. Franklin was diagnosed with Pervasive Developmental Disorder (PDD), which today falls under the umbrella of autism. More recently, we had additional genetic testing done and results revealed my son has NR4A2 related syndrome.  What motivated you to have additional genetic testing done after so long and what did that change for you? There's an old Russian proverb that says "trust, but verify" and I have always been the type of person who prefers to go to the source to verify and not go by what someone tells me. Over the years, I've read many books that have helped me to navigate where I'm going. When I first got the diagnosis, I couldn't focus on anything else and with time I learned more and more. Now that I have an accurate diagnosis and better understanding, I can reflect back on his struggles and better understand the reasons why those things happened. In your opinion, what should parents focus less energy on and refocus elsewhere that you've found valuable on your own journey? I'd say to quit worrying about the future. Live for the moment. Love your partner and don't stress the little things because everything will work out. The future might get better, it might get worse, but either way, our experiences make us better people. Personally, I'm more compassionate than I used to be due to the trials and tribulations with my son. Things that happen to us, happen for facets we wouldn't think and can help us be better.  LINKS & RESOURCES MENTIONED Simons Searchlight https://www.simonssearchlight.org/ Dr. Temple Grandin's Books https://www.templegrandin.com/templegrandinbooks.html Autism: Explaining the Enigma by Uta Frith https://www.amazon.com/Autism-Explaining-Enigma-Uta-Frith/dp/0631229019 Oliver Sacks Books https://www.oliversacks.com/books-by-oliver-sacks/ IFTT https://ifttt.com/ Google Alerts https://www.google.com/alerts Real Anthony Fauci: Bill Gates, Big Pharma, and the Global War on Democracy and Public Health (Children’s Health Defense) https://www.amazon.com/Real-Anthony-Fauci-Democracy-Childrens/dp/1510766804 Genetics for Dummies https://www.amazon.com/Genetics-Dummies-Tara-Rodden-Robinson/dp/0470551747 Going Down the Steps with a Gun in his Hands https://www.aprilhenry.com/my-great-grandfather-the-killer.html?fbclid=IwAR12kpKGX-T6oYwEY54d2i5fNuPGD3Zv1G5wk9h3MxDlnuO-ohMAPnqrtRw TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email ad[email protected] for more information!

Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf    FASTERCURES See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo  https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train  Census https://Syngap.fund/census - 1,238   CHOP McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QOTy42vH52Fw  NHS Blog - https://www.syngapresearchfund.org/post/natural-history-study-at-childrens-hospital-of-philadelphia-is-a-natural-win-for-srf  What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study  Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-and-syngap1-natural-history-reflections-after-day-1-of-endd-clinic/   STUDIES See #S10e107 for four opportunities, https://www.youtube.com/watch?v=boHYLi3S-Mk  But also: UCLA - EEG - West Coast! Missense, let’s make cell lines… watch this: https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations/    PODCASTS Brain and Life 1 and 2 https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with  Part 1 - English - https://www.brainandlife.org/podcast/community-stories-navigating-rare-epilepsy-diagnosis  Part 2 - Spanish - https://www.brainandlife.org/podcast/comunidad-sobre-como-afrontar-diagnostico-epilepsia-genetica    Podcasts - Syngap1 Stories - Ashley Evans (11) and Monica Harding (12) Ashley - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-011 Monica - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012   CONFERENCE  Pre-registration link: https://Syngap.Fund/2023conf   Hotels ASAP: https://Syngap.Fund/2023hotel  Merch https://www.bonfire.com/srf-syngap1-conference-2023/    All this was in today’s newsletter! https://Syngap.Fund/News33    Ed is doing a great job with these, thank you Ed!   Volunteer with SRF! [email protected]    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:  https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 108 of #Syngap10 - July 13, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

ONCE UPON A GENE - EPISODE 194 A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber Sophia Zilber has 28 years of experience in the pharmaceutical industry and she's a patient registry expert, volunteering her expertise to help the rare disease community in memory of her daughter who died from a mitochondrial disease called Leigh's syndrome.  EPISODE HIGHLIGHTS Can you tell us about yourself and your experience as a rare mom? My personal experience with rare disease started 6 years ago when my daughter was born with Leigh's syndrome. She became very sick at about three weeks old and she died a month later. Professionally, I work in data analysis for clinical trials in the pharmaceutical industry. Since the loss of my daughter, I have used my knowledge to help with patient registry data. I'm also currently on the board for the Cure Mito Foundation.  What is a patient registry? A patient registry is a collection of data that describes a specific disease which can be used for purposes such as clinical trials, research on the disease, understanding a disease burden, examining how people use the healthcare system or to look at the natural history of the disease. There are many valuable reasons to have a patient registry.  How do you determine the most valuable information to include in a patient registry? Understand the scope and what your group can realistically achieve. Think about what you want to get out of the registry, whether or not the data is accessible, if you want to recruit patients for clinical trials or if you will share insights with the community.  For small groups without money, how do they start a registry? When it comes to data, less is more. If you have a smaller data set with information relevant to the disease that shows specific findings about the disease, the quality of the data will be better. I recommend that every group has an advisor who can analyze the data dictionary, assess and understand it, and advise the appropriate format of the data based on the goals of the group. When you have data available in a good format, you can share insights and use the registry to advance the group's goals, and it doesn't have to cost a lot.  What advice do you have for groups who have a registry, but don't know what to do with it? Don't wait for researchers to take interest in the data because there's a lot you can do with it on your own. If you have data you can access and draw insights from, share that within the community to raise awareness. Print posters and share them at conferences. If you have the resources, write a paper to distribute. Make sure companies who do clinical trials know you have a registry. Know your data because the better you know your data, the more others will see the value in your findings. When you use your registry to show a community standing together, there's more interest in studying your disease.  LINKS & RESOURCES MENTIONED 2023 Global Genes Week in RARE https://globalgenes.org/week-in-rare/ Cure Mito Foundation https://www.curemito.org/ Phuse https://phuse.global/ Sophia Zilber on Linkedin https://www.linkedin.com/in/sophiazilber Patient Foundations Guide to Starting a Registry: https://phuse.s3.eu-central-1.amazonaws.com/Deliverables/Emerging+Trends+%26+Technologies/Patient+Foundations+Guide+to+Starting+a+Registry.pdf Patient Registry Transparency Checklist for Patient Foundations: https://phuse.s3.eu-central-1.amazonaws.com/Deliverables/Emerging+Trends+%26+Technologies/Patient+Registry+Transparency+Checklist+For+Patient+Foundations.pdf Myths vs. Facts about Patient Registries: https://phuse.s3.eu-central-1.amazonaws.com/Deliverables/Emerging+Trends+%26+Technologies/Myths+VS+Facts+About+Patient+Registries.pdf Interested in advertising on Once Upon a Gene? Email ad[email protected] for more information!